Linked Data
ClinVar Variation Id:
225952
ClinVar RCV Id:
RCV000606383
dbSNP Id:
rs1414334
gnomAD v2:
X-114138144-C-G
gnomAD v3:
X-114903581-C-G
gnomAD v4:
X-114903581-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.114903581C>G , CM000685.2:g.114903581C>G | GRCh38 |
| NC_000023.10:g.114138144C>G , CM000685.1:g.114138144C>G | GRCh37 |
| NC_000023.9:g.114044400C>G | NCBI36 |
| NG_012082.2:g.324497C>G | |
| NG_012082.3:g.324497C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000276198.6:c.551-3008C>G MANE Select | ENSP00000276198.1:n.551-3008C>G | |
| ENST00000276198.5:c.551-3008C>G | ENSP00000276198.1:n.551-3008C>G | |
| ENST00000371950.3:c.456-3008C>G | ENSP00000361018.3:n.456-3008C>G | |
| ENST00000371951.5:c.551-3008C>G | ENSP00000361019.1:n.551-3008C>G | |
| NM_000868.3:c.551-3008C>G | NP_000859.1:n.551-3008C>G | |
| NM_001256760.2:c.551-3008C>G | NP_001243689.1:n.551-3008C>G | |
| NM_001256761.2:c.456-3008C>G | NP_001243690.1:n.456-3008C>G | |
| NM_000868.4:c.551-3008C>G MANE Select | NP_000859.2:n.551-3008C>G | |
| NM_001256760.3:c.551-3008C>G | NP_001243689.2:n.551-3008C>G | |
| NM_001256761.3:c.456-3008C>G | NP_001243690.2:n.456-3008C>G |